Linked Data
ClinVar Variation Id:
8052
dbSNP Id:
rs104894293
ExAC:
11:47463227 A / G
gnomAD v2:
11-47463227-A-G
gnomAD v3:
11-47441675-A-G
gnomAD v4:
11-47441675-A-G
PubMed:
PMID:16931511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441675A>G , CM000673.2:g.47441675A>G | GRCh38 |
| NC_000011.9:g.47463227A>G , CM000673.1:g.47463227A>G | GRCh37 |
| NC_000011.8:g.47419803A>G | NCBI36 |
| NG_008312.1:g.12504T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298854.7:c.848T>C MANE Select | ENSP00000298854.2:p.Leu283Pro | |
| ENST00000298854.6:c.848T>C | ENSP00000298854.2:p.Leu283Pro | |
| ENST00000352508.7:c.789+148T>C | ENSP00000298853.3:n.789+148T>C | |
| ENST00000524487.5:c.689T>C | ENSP00000435551.2:p.Leu230Pro | |
| ENST00000528356.1:n.57T>C | ||
| ENST00000529341.1:c.789+148T>C | ENSP00000431732.1:n.789+148T>C | |
| NM_005055.4:c.848T>C | NP_005046.2:p.Leu283Pro | |
| NM_032645.4:c.789+148T>C | NP_116034.2:n.789+148T>C | |
| XM_005253042.2:c.848T>C | XP_005253099.1:p.Leu283Pro | |
| XM_005253043.2:c.789+148T>C | XP_005253100.1:n.789+148T>C | |
| XM_011520252.1:c.848T>C | XP_011518554.1:p.Leu283Pro | |
| XM_011520253.1:c.848T>C | XP_011518555.1:p.Leu283Pro | |
| XM_005253042.3:c.848T>C | XP_005253099.1:p.Leu283Pro | |
| XM_005253043.3:c.789+148T>C | XP_005253100.1:n.789+148T>C | |
| NM_005055.5:c.848T>C MANE Select | NP_005046.2:p.Leu283Pro | |
| NM_032645.5:c.789+148T>C | NP_116034.2:n.789+148T>C |